Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4594919C>G , CM000671.2:g.4594919C>G | GRCh38 |
| NC_000009.11:g.4594919C>G , CM000671.1:g.4594919C>G | GRCh37 |
| NC_000009.10:g.4584919C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_148444.1:n.1723+5734G>C | |
| NR_148444.2:n.1754+5734G>C | |
| NR_148445.1:n.1632+1516G>C | |
| NR_148445.2:n.1663+1516G>C | |
| ENST00000461761.5:c.*254+1516G>C | ENSP00000418458.1:n.*254+1516G>C |
| ENST00000485616.5:c.*781+5734G>C | ENSP00000420003.1:n.*781+5734G>C |
| ENST00000486047.5:c.*1106+5734G>C | ENSP00000417965.1:n.*1106+5734G>C |
| XM_017014882.2:c.*1+9260G>C | XP_016870371.1:n.*1+9260G>C |
| XM_017014883.2:c.*2-5958G>C | XP_016870372.1:n.*2-5958G>C |
| XR_001746335.2:n.1478+5734G>C | |
| XR_001746336.1:n.3090G>C | |
| XR_001746339.1:n.2879G>C |